polygenic_disorder

http://purl.obolibrary.org/obo/mondo/patterns/polygenic_disorder.yaml

Description

This pattern is for diseases that are caused by a variation (or mutation) in a two or more genes. The relation disease has basis in dysfunction should be used for each gene that is affected. For digenic diseases, this would be twice, for polygenic diseases, it would be 3 or more. Examples: Usher syndrome, type 1D/F

Contributors

• https://orcid.org/0000-0002-4142-7153
• https://orcid.org/0000-0001-5208-3432

Name

{disease} caused by variation in {gene}

Annotations

• exact_synonym: {gene} {disease}

• exact_synonym: {gene} related {disease}

• exact_synonym: {disease} caused by mutation in {gene}

Definition

Any {disease} in which the cause of the disease is a variation in the {gene} gene.

Equivalent to

{disease} and has material basis in germline mutation in some {gene} and has material basis in germline mutation in some {gene}